Definition

What is Aase syndrome?

The disorder is primarily characterized by the presence of three bones (phalanges) within the thumbs (triphalangeal thumbs) rather than the normal two and abnormally reduced production of red blood cells (hypoplastic anemia). In some instances, additional abnormalities may be present.

How common is Aase syndrome?

Aase Syndrome (or Aase-Smith Syndrome II) is a highly infrequent disorder. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Aase syndrome?

The common symptoms of Aase syndrome are:

  • Absent or small knuckles
  • Cleft palate
  • Decreased skin creases at finger joints
  • Deformed ears
  • Droopy eyelids
  • Inability to fully extend the joints from birth (contracture deformity)
  • Narrow shoulders
  • Pale skin
  • Triple-jointed thumbs

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Aase syndrome?

Many cases of Aase syndrome occur without a known reason and are not passed down through families (inherited). However, some cases (45%) have been shown to be inherited. These are due to a change in 1 of 9 genes important for making protein correctly (the genes make ribosomal proteins)

This condition is similar to Diamond-Blackfan anemia, and the 2 conditions should not be separated. A missing piece on chromosome 19 is found in some people with Diamond-Blackfan anemia.

The anemia in Aase syndrome is caused by poor development of the bone marrow, which is where blood cells are formed.

Risk factors

What increases my risk for Aase syndrome?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Aase syndrome diagnosed?

The health care provider will perform a physical exam. Tests that may be done include:

  • Bone marrow biopsy
  • Complete blood count (CBC)
  • Echocardiogram
  • X-rays

How is Aase syndrome treated?

Treatment may involve blood transfusions in the first year of life to treat anemia.

A steroid medicine called prednisone has also been used to treat anemia associated with Aase syndrome. However, it should only be used after reviewing the benefits and risks with a provider who has experience treating anemias.

A bone marrow transplant may be necessary if other treatment fails.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Aase syndrome?

Genetic counseling is recommended if you have a family history of this syndrome and wish to become pregnant.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

 

Sources

Review Date: December 27, 2017 | Last Modified: December 27, 2017

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